Varaico: Literature-Extracted Genetic Variants

Gene:CELSR1
Variant:p.R2497C
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CELSR1

NM_001378328.1:p.R2497C

Associated Papers

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.

Theis JL et al.

Circulation. Genomic and Precision Medicine, 2022

Identification of novel CELSR1 mutations in spina bifida.

Lei Y et al.

Plos One, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."